Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8040 | 24343;24344;24345 | chr2:178719272;178719271;178719270 | chr2:179583999;179583998;179583997 |
| N2AB | 7723 | 23392;23393;23394 | chr2:178719272;178719271;178719270 | chr2:179583999;179583998;179583997 |
| N2A | 6796 | 20611;20612;20613 | chr2:178719272;178719271;178719270 | chr2:179583999;179583998;179583997 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 0.994 | N | 0.806 | 0.427 | 0.676054667023 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| C/S | rs1398583484  |
-1.956 | 0.99 | N | 0.72 | 0.409 | 0.48087575253 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/S | rs1398583484 |
-1.956 | 0.99 | N | 0.72 | 0.409 | 0.48087575253 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| C/Y | None | None | 0.994 | N | 0.757 | 0.362 | 0.509286489854 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5234 | ambiguous | 0.543 | ambiguous | -1.638 | Destabilizing | 0.982 | D | 0.654 | neutral | None | None | None | None | N |
| C/D | 0.9766 | likely_pathogenic | 0.9865 | pathogenic | -1.616 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| C/E | 0.9858 | likely_pathogenic | 0.9923 | pathogenic | -1.377 | Destabilizing | 0.996 | D | 0.789 | deleterious | None | None | None | None | N |
| C/F | 0.5283 | ambiguous | 0.5715 | pathogenic | -1.077 | Destabilizing | 0.997 | D | 0.751 | deleterious | N | 0.511405609 | None | None | N |
| C/G | 0.3417 | ambiguous | 0.4025 | ambiguous | -1.987 | Destabilizing | 0.997 | D | 0.766 | deleterious | N | 0.451936018 | None | None | N |
| C/H | 0.884 | likely_pathogenic | 0.9337 | pathogenic | -2.26 | Highly Destabilizing | 0.323 | N | 0.687 | prob.neutral | None | None | None | None | N |
| C/I | 0.746 | likely_pathogenic | 0.7521 | pathogenic | -0.693 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| C/K | 0.9861 | likely_pathogenic | 0.993 | pathogenic | -1.13 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| C/L | 0.6757 | likely_pathogenic | 0.6867 | pathogenic | -0.693 | Destabilizing | 0.993 | D | 0.693 | prob.neutral | None | None | None | None | N |
| C/M | 0.8404 | likely_pathogenic | 0.8593 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| C/N | 0.8999 | likely_pathogenic | 0.9365 | pathogenic | -1.739 | Destabilizing | 0.996 | D | 0.794 | deleterious | None | None | None | None | N |
| C/P | 0.9874 | likely_pathogenic | 0.9908 | pathogenic | -0.986 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| C/Q | 0.9392 | likely_pathogenic | 0.9662 | pathogenic | -1.252 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| C/R | 0.8954 | likely_pathogenic | 0.9447 | pathogenic | -1.589 | Destabilizing | 0.994 | D | 0.806 | deleterious | N | 0.490550334 | None | None | N |
| C/S | 0.4888 | ambiguous | 0.5492 | ambiguous | -2.009 | Highly Destabilizing | 0.99 | D | 0.72 | prob.delet. | N | 0.440332157 | None | None | N |
| C/T | 0.741 | likely_pathogenic | 0.7727 | pathogenic | -1.59 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| C/V | 0.6398 | likely_pathogenic | 0.6356 | pathogenic | -0.986 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/W | 0.8712 | likely_pathogenic | 0.906 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.455323266 | None | None | N |
| C/Y | 0.6889 | likely_pathogenic | 0.755 | pathogenic | -1.286 | Destabilizing | 0.994 | D | 0.757 | deleterious | N | 0.495321435 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.